Indian childhood cirrhosis (ICC) & ICC-like diseases: the changing scenario of facts versus notions.

Indian childhood cirrhosis (ICC), a disease considered to have been endemic in and unique to India has now been documented in children of non-Indian origin from other countries. More recently available findings from a large multicentre study sponsored by the Indian Council of Medical Research (ICMR) have dispelled some of the generally accepted notions and have established several new facts on different aspects of the disease. All relevant reports on ICC and ICC-like diseases, till date, were reviewed to obtain a proper perspective on the current state of our understanding on this non-Wilsonian copper overload liver disease. A primary role of exogenous copper in causing the disease was earlier debated on the basis of studies in India but investigators abroad studying some sporadic cases and a series of endemic ICC-like diseases supported a hepatotoxic injury by ingested copper in genetically susceptible infants and children in ICC- like disease and in ICC. Epidemiologic and morphologic findings in the well controlled ICMR study based on 225 cases of ICC and 426 controls, all confirmed on liver biopsy, have however, convincingly refuted this concept. Additionally, this study revealed that unlike what has been believed earlier, older children more than 3 yr age can get the disease and that in its natural course the hepatic histology can transform between the characteristic one considered diagnostic and some other patterns, any one of which can be the morphologic manifestation at first presentation of the patient. Older children and cases with milder morphologic changes at presentation had longer survival. The overall inference from critical analysis of all available data is that ICC and ICC-like diseases clinically manifest in a child of any age though common in younger ones, and a clinical diagnosis must be made in any child with so-called 'cryptogenic cirrhosis'. Exposure to exogenous copper in food, milk and water should not be a prerequisite for this consideration. A liver biopsy whenever feasible should be mandatory for confirmation with the understanding that the morphologic changes in liver can present a few other patterns besides the characteristic one currently taken to be diagnostic. The ascribed current decline in encountering ICC is likely to be due partly to missing a diagnosis and partly to a true reduction in incidence consequent on time related economic and socio-cultural changes.

An evidence-based analysis of vertebroplasty and kyphoplasty.

There is a vast array of literature comparing treatment modalities for vertebral augmentation, which includes balloon kyphoplasty (BKP); vertebroplasty (VP); and non-surgical management (NSM). This has produced differing and sometimes contradictory conclusions in determining the efficacy of these procedures, which prompts further investigation into the design and outcome measures of these studies. This review examines the recent literature on the management of vertebral compression fractures and offers insight on the Level I and Level II trials comparing these treatment modalities, with specific focus on design, endpoints, and outcome measurements. The review emphasizes the idea that no one study can be held as gospel, and further studies with standardized methods of inclusion and measuring outcome are necessary to determine which patients will enjoy the greatest benefit from each treatment modality.

Kaposi's sarcoma in a patient with AIDS.

We report a case of a 40 year old HIV infected male, citizen of Somalia who presented with multiple painful, livid reddish brown plaques, papules and nodules on both lower limbs and purplish red nodules on the hard palate. The cutaneous nodular lesions on biopsy showed characteristic features of Kaposi's sarcoma. This case is reported due to paucity of Kaposi's sarcoma in Indian literature.

Sudden death due to cardiac toxoplasmosis.

The recognition of cardiac toxoplasmosis has increased in patients with acquired immunodeficiency syndrome. The functional consequences of toxoplasmosis of heart vary considerably depending on the intensity of inflammatory reaction, the extent of involvement of myocardial muscle fibers by necrosis and intramyocytic presence of tachyzoites of Toxoplasma gondii. This report describes a case of toxoplasma myocarditis that lead to fatal cardiac arrest. To the best of our knowledge, this is the first reported case of cardiac toxoplasmosis in the Indian literature, which has manifested as sudden death.

Meningiomas: report of a hospital-based registry.

This is a hospital-based epidemiologic study of meningiomas. Of 1321 central nervous system tumours, meningiomas constituted 21% of the cases, being the second largest category of a single histologic type after astrocytomas. Of the 267 meningiomas studied, 247 were intra-cranial (92.5%). The age of the patients varied between 6 to 84 years. Histological subclassification is presented and treatment schedules discussed. 261 (98%) meningiomas were histologically benign and 5 were malignant meningiomas (1.9%). A 5-year follow-up was available in most cases, with the help of which it was possible to understand the biological behaviour of various sub-types and the influence of other parameters such as location and treatment schedules. Of note was the fact, that out of 261 patients with benign meningiomas, 11 succumbed in the immediate post-operative period and in 8 of these cases, the tumour was located at the base of the skull.

Penicillium marneffei infection: an AIDS-defining illness.

A 29-year-old HIV seropositive male patient from Manipur presented with fever, cough, weight loss and asymptomatic papules and nodules all over the body. Differential diagnoses of secondary syphilis, histoplasmosis, cryptococcosis and penicilliosis were considered. Histopathological and mycological study of the skin biopsy tissue, and blood culture confirmed the diagnosis of penicilliosis. Although penicilliosis, an AIDS-defining illness, is restricted to Southeast Asia, more and more cases are being recognized in non-endemic countries.

A study of clinical and laboratory features of 14 Indian patients with dysferlinopathy.

AIM: The aim of the study was to analyze the clinical and laboratory characteristics of Indian patients having dysferlinopathy. METHODS AND MATERIAL: Patients with limb girdle muscular dystrophy (LGMD) were prospectively studied. History, examination, and laboratory evaluation, including creatine kinase, electrophysiology, and muscle biopsy with immunocytochemistry, was carried out. RESULTS AND CONCLUSIONS: Fourteen patients (14.58% of patients with LGMD) had dysferlin deficiency. The mean age at onset was 19.9 years. Nine patients had distal presentation and in the remaining 5 patients, it was proximal. Asymmetry of muscle weakness was seen in 6 patients. Three patients experienced initial calf pains with transient hypertrophy. Gastrocnemius and tibialis anterior muscles were almost similarly affected. The brunt of proximal weakness was on iliopsoas, hip adductors, hamstrings, and quadriceps muscles. Upper limbs were mildly affected. Biceps lump was seen in 4 patients. The phenotype was mild and ambulation was maintained in all patients, many years into the illness.

Pune low birth weight study--a six year follow up.

OBJECTIVE: To evaluate the intelligence, visuo-motor perception, emotional problems and preschool skills in low birth weight (LBW) infants and the impact of social and environmental factors on their development. DESIGN: A prospective cohort study. SETTING: Infants discharged from a Neonatal Special Care Unit of a referral hospital with birth weight less than 2000 g followed up in the High Risk Clinic. METHODS: Low birth weight infants were assessed by Stanford Binet Scales of intelligence, Bender Gestalt Test for visuo-motor perception, Human Figure Drawing for emotional indicators and occupational therapy assessment. A detailed evaluation of their environment and socio-economic status was done. Hearing and ophthalmic assessment was also done and the school progress report was scrutinized. RESULTS: Two hundred and one LBW and seventy one control children were assessed. The mean IQ of LBW children was within normal limits (94.3), though significantly lower than controls (101.3). Preterm SGA children had the lowest mean IQ. Visuo-motor perception and preschool skills and language development was poorer in LBW children. There was no difference in the emotional indicators. Thirteen per cent of LBW children had borderline IQ, as compared to 5.6% in controls (p<0.05). Mother's education and spaciousness of the house had a positive impact and chronic medical problems had a negative impact on the IQ. CONCLUSIONS: The mean IQ of LBW children was within normal limits. The incidence of children with borderline intelligence (IQ 70-85) was significantly higher than controls. Mother's education had a positive impact on the intelligence of the children. A longer follow up is necessary to identify "slow learners".

Epstein-Barr virus in nasopharyngeal carcinoma in Indian patients.

Formalin fixed paraffin embedded tissue blocks from 40 cases of nasopharyngeal carcinoma were investigated for the presence of Epstein-Barr virus (EBV). Heminested polymerase chain reaction was employed to amplify U 2 region of EBV DNA coding for EBNA 2 gene. This is the first study of its kind carried out in India. EBV was detected in 28 out of 40 (70%) nasopharyngeal carcinomas. Type A EBV was identified in 20 cases (71.4%), type B in 7 cases (25%) and coinfection in one case (3.5%). Either type A, or type B EBV, was identified in 22 out of 23 cases (95.7%) of undifferentiated nasopharyngeal carcinoma and 6 out of 15 cases (40%) of non keratinized squamous carcinoma. The higher incidence of EBV in non keratinized squamous carcinoma of nasopharynx assumes importance in view of the contrary reports in other studies. 26 cases were from Western India, of which 15 (57.6%) showed presence of type A EBV and 2 (7.6%) type B EBV. From Eastern Indian particularly Assam, 4 our of 5 cases showed positivity for type B EBV and 1 a coinfection. Whereas, from Bihar 3 out of 4 cases showed presence of type A EBV. From Middle East (Arabs) type A EBV was detected in 3 out of 5 cases of nasopharyngeal carcinomas. Geographically, type A EBV was far more prevalent in Western India, while in Eastern India particularly Assam, all five vases were positive for type B EBV. Thus, a significant variation in the type of EBV infection was observed in nasopharyngeal carcinoma in different ethnic populations in India.

Senile systemic amyloidosis--a case report.

An 85 years old female presented with acute pain and weakness in left lower extremity and doppler evidence of femoropopliteal block was made which subsequently proved fatal. Necropsy revealed extensive amyloid deposition in the heart and amyloid angiopathy in rest of the organs.

Squash preparation and frozen section in intraoperative diagnosis of central nervous system tumors.

OBJECTIVE: To investigate the diagnostic accuracy of squash preparation (smears) and frozen section (FS) in the rapid intraoperative diagnosis of central nervous system (CNS) tumors. STUDY DESIGN: One hundred eighty-three CNS tumors were examined over a period of 18 months (January 1995-June 1996). All these were open biopsies, and the smear interpretation was compared with FS findings and paraffin section diagnosis. RESULTS: In 183 tumors, squash preparation was satisfactory in 156 cases (85.2%), and the diagnostic accuracy was 89.7% (140/156). The accuracy of FS diagnosis was 90.4% (141/156). CONCLUSION: The squash smear preparation is a fairly accurate and reliable tool in the rapid intraoperative diagnosis of CNS tumors. The accuracy of this technique is nearly as good as that of FS (P value = .9877). With the advent of stereotactic biopsies, the pathologist may have to depend entirely upon cytologic features for a definitive diagnosis.

Cavernous hemangiomas of the rectum: report of three cases.

Cavernous hemangioma of the rectum are uncommon benign vascular lesions. Misdiagnosis often occurs because of lack of awareness of classic clinical features. Endoscopy, plain x-ray abdomen, barium enema, and selective angiography are useful means of investigation for accurate diagnosis. Three cases of rectal haemangioma are presented that were earlier misdiagnosed as ulcerative colitis.

Resolution of spur cell anemia with liver transplantation: a case report and review of the literature.

Spur cell anemia is an acquired hemolytic anemia, characterized by an increased percentage of abnormally shaped erythrocytes that are known as acanthocytes. The erythrocytes have numerous spicules irregularly distributed over the cell surface. Spur cell anemia has been described to occur in several conditions, including cirrhosis. We present an unusual case of a young patient with hemochromatosis, alcohol abuse, decompensated cirrhosis, and spur cell anemia who had a spontaneous resolution of the spur cell anemia after orthotopic liver transplantation. This finding suggests that the diseased liver may contribute to transformation of the erythrocyte to the spur cell.

Primary central nervous system lymphoma.

A clinicopathological analysis of 18 cases of primary intracranial malignant lymphoma encountered in the period 1980 to 1994 is presented. The total SOL's in this period was 924, the incidence of malignant lymphoma working out to 2%. The patients age ranged from 14 to 72 years with maximum prevalence in the sixth and seventh decade. The male to female ratio was 2:1 and the patients presented with evidence of CNS deficit, change in mental status or raised ICI. 15 cases had a single site of involvement while 3 patients had multicentric lesions. As far as could be determined none of the cases had evidence of immunesuppression and test for HIV carried out in five cases was negative. All the tumors were subjected to light microscopy and the diagnosis was confirmed either by ultrastructural examination or immunohistochemistry. 13 tumors were large cell high grade lymphomas while the rest revealed smaller cells. Eleven patients received post operative radiotherapy and two were given post operative chemotherapy. The outcome of the patients was poor in most cases, fifteen out of eighteen died within two years.

Waardenburg syndrome with anisocoria and exotropia.

A case of Waardenburg syndrome with unusual features such as anisocoria, exotropia is reported.

Nuclear decondensation of sperm head and failure at in-vitro fertilization: an ultrastructural study.

The problem of unexplained male infertility was investigated by electron microscopic study of spermatozoa from 51 males. The subjects were subdivided as follows: group A (n = 25) normal fertile males (controls), group B (n = 13) successful in-vitro fertilization (IVF) cases (fertilization rate > 50%), group C (n = 13) failed IVF cases. All subjects included in groups B and C had a 6-12 year history of childlessness and IVF was employed when other methods of assisted reproduction failed. The study of spermatozoa in fertile males (controls) was carried out to establish baseline ultrastructural abnormalities. In all 51 cases, an average of 330 (280-800) sperm heads and 660 (330-1190) sperm tails were studied. Decondensation of nuclear chromatin was observed in 70 +/- 15% (mean +/- SD) of spermatozoa in failed IVF cases, 16 +/- 5% in successful IVF cases and 7 +/- 3% in controls. These results were found to be statistically significant (P > 0.001). The mean value for motility of spermatozoa in all three groups was within accepted limits of normality. It is concluded that decondensation of nuclear chromatin seen by electron microscopy is one of the most important causes of male infertility. It is advocated that electron microscopic examination of semen should be carried out in all cases of long-standing, unexplained male infertility before embarking upon IVF programmes.

Percutaneous renal biopsy using Monopty needle.

Forty six percutaneous renal biopsies (thirty one native and fifteen transplant kidneys) were performed using the Monopty needle, compared with equal number of biopsies performed using the Travenol Tru-cut needle. The core length of samples obtained ranged from 3-16 mm using Monopty and 5-13 mm using Tru-cut. Adequate tissue was obtained in 65.5% and 80.4% of cases with the use of Monopty and Tru-cut respectively. Both the needles gave equal number of reuses. The use of Tru-cut needle was associated with serious complications like gross haematuria requiring blood transfusions and perinephric haematoma in ten cases whereas only two cases developed haematuria when the Monopty needle was used. In view of its greater safety we have switched over to using the Monopty needle for percutaneous renal bipsies.

The role of initial 5-fluorouracil trabeculectomy in primary glaucoma.

Sixty-eight patients with primary glaucoma involving 68 eyes were divided into two groups: Group I eyes were subjected to trabeculectomy (n = 38) and Group II eyes underwent trabeculectomy followed by subconjunctival injections of 5-fluorouracil (35 mg) (n = 30). After one year follow-up, Group I eyes exhibited reduction of mean intra-ocular tension from 45.7 mm Hg (pre-operative) to 16 mm Hg; optic disc cupping remained unchanged and 24/38 eyes (63%) were found to have field defects (19/38 i.e. 50% had preoperative field defects.) Group II eyes showed a reduction of mean intra-ocular pressure from 47.3 mmHg to 9.3 mmHg after one year. Mean cup disc ratio was lowered from 0.50:1 to 0.46:1 and 17/30 eyes (57%) which had field defects initially continued to exhibit the same. Complications in Group I and II eyes were shallow anterior chamber [8/38 eyes (21%) from Group I and 8/30 eyes (26%) from Group II], posterior synechiae formation in 10/38 eyes (26%) and 8/30 eyes (26%) and cataract progression in 13/38 eyes (34%) and 12/30 eyes (40%) respectively; only Group II eyes had transient superficial keratitis in 9/30 eyes (30%) and thin blebs in 6/30 eyes (20%). The use of 5-fluorouracil after trabeculectomy for primary glaucoma resulted in lowering of intra-ocular pressure, eliminated the need for antiglaucoma medications post-operatively, reduced the galucomatous cup size, and prevented progression of field loss without having a significantly increased complication rate.

Immunological and ultrastructural studies in acute biphenotypic leukaemia.

AIMS: To compare the sensitivity of the ultrastructural method to detect myeloperoxidase (MPO) with light microscopy and immunocytochemistry using an anti-MPO antibody; to examine the expression of lymphoid antigens in relation to MPO activity in blast cells from cases of biphenotypic leukaemia. METHODS: Blast cells from 14 cases of biphenotypic acute leukaemia were analysed. Immunological markers were performed by single or double immunofluorescence staining on a flow cytometer. The presence of MPO was determined by light microscopy, electron microscopy on fixed and unfixed cells, and by immunoalkaline phosphatase with an anti-MPO antibody. The immunogold method was applied at the ultrastructural level to assess the expression of lymphoid and myeloid antigens at the same time as the MPO activity. RESULTS: Six of the 14 cases were initially classified as acute lymphoblastic leukaemia (ALL) and eight as acute myeloid leukaemia (AML). MPO activity was shown at the ultrastructural level in 4-99% blasts from all cases. Six of the 14 were MPO negative by light microscopy and three of these were negative with the antibody anti-MPO. Coexpression of lymphoid antigens (CD19, CD10, or CD2) and MPO was shown by the immunogold method in four out of 11 cases; in seven cases the blasts coexpressed myeloid antigens (CD13, CD33) and MPO. CONCLUSIONS: Electron microscopy is more sensitive for showing MPO than light microscopy and immunocytochemistry; the immunogold method combined with MPO used at the ultrastructural level can help to define the cell lineage involved in biphenotypic leukaemia by highlighting the myeloid component defined by MPO.